Causes

NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease.

NF1 also appears in families with no history of the condition. In these cases, it is caused by a new gene change (mutation) in the sperm or egg. NF1 is caused by problems with a gene for a protein called neurofibromin.

Symptoms

Neurofibromatosis causes tissue along the nerves to grow uncontrollably. This growth can put pressure on affected nerves.

If the growths are in the skin, there are no major symptoms. If the growths are in other nerves or parts of the body, they can cause pain, severe nerve damage, and loss of function in the area the nerve affects. Problems with feeling or movement can occur, depending on which nerves are affected.

The condition can be very different from person to person, even among people in the same family who have the same NF1 gene change.

"Coffee-with-milk" (cafe-au-lait) spots are the hallmark symptom of neurofibromatosis. Many healthy people have 1 or 2 small cafe-au-lait spots. However, adults who have six or more spots that are bigger than 1.5 cm in diameter (0.5 cm in children) could have neurofibromatosis. In some people with the condition, these spots may be the only symptom.

Treatment

There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumors are under investigation.

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